Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.R165R
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GJB2

NM_004004.6:p.R165R

Associated Papers

Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.

Flintoff K et al.

Human Genetics, 2007

Gene symbol: ALMS1.

Flintoff KJ et al.

Human Genetics, 2007

Gene symbol: ABCD1.

Dvorakova L et al.

Human Genetics, 2007

Gene symbol: VHL.

Mavrogiannis LA et al.

Human Genetics, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."